Kippy
New member
- Joined
- May 6, 2018
- Messages
- 2
- Reason
- Learn about ALS
- Country
- US
- State
- Mi
- City
- Detroit
I'm going to try to keep this short and start by saying I'm actively trying to get into a neuro at the local hospital that deals with neurodegenerative diseases.
Through genetic testing (legit, medical testing done by a Dr.) I was found to have a mutation of the FIG4/ALS11/Sac3 gene. It's deletions of exons 8-10. My son also has it. We have been diagnosed with definite CMT1A (PMP22 gene duplication). But no one seems to want to tell me what the FIG4 gene mutation means. The genetic report states that it is expected to create a premature tranational stop signal.
So like all rational people, I started googling. Yeah, I know... BAD idea. The only references I can find are to how deleterious variants of the FIG4 gene are now being linked to super rare forms of ALS. Well. That wasn't quite what I expected to find.
But what I can't seem to find - is a mutation like this enough to really give any insight into the likelihood of developing ALS? Or am I worrying about absolutely nothing?
Through genetic testing (legit, medical testing done by a Dr.) I was found to have a mutation of the FIG4/ALS11/Sac3 gene. It's deletions of exons 8-10. My son also has it. We have been diagnosed with definite CMT1A (PMP22 gene duplication). But no one seems to want to tell me what the FIG4 gene mutation means. The genetic report states that it is expected to create a premature tranational stop signal.
So like all rational people, I started googling. Yeah, I know... BAD idea. The only references I can find are to how deleterious variants of the FIG4 gene are now being linked to super rare forms of ALS. Well. That wasn't quite what I expected to find.
But what I can't seem to find - is a mutation like this enough to really give any insight into the likelihood of developing ALS? Or am I worrying about absolutely nothing?